21822-2
t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points [Presence] in Blood or Tissue by Molecular genetics method
Active
Part Description
LP150238-6 t(9;22)(q34.1;q11)(ABL1,BCR)
Chronic myelogenous leukemia (CML), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML) are associated with the fusion of the breakpoint cluster gene (BCR) at chromosome 22q11 to the Abelson gene (ABL1) at chromosome 9q23. The t(9;22)(BCR-ABL1) gene translocation leads to the cytogenetic finding known as the Philadelphia chromsome (Ph'). Various breakpoints within the BCR and ABL1 genes have been described. Most cases of CML are due to a fusion of BCR exon 13 (e13 or b2) or BCR exon 14 (e14 or b3) to the ABL exon 2 (a2). The b2a2 (e13a2) and b3a2 (e14a2) fused transcripts, also known as major break points, produce a 210-kDa protein (p210). The fused transcript resulting in a 190-kDa protein (e1a2 or less common e1a3), also known as minor break points, is found in approximately 75% of childhood ALL patients and 50% of adult ALL patients. Other rarely reported fused transcripts include e6a2, e19a2 (p230), e13a3, and e14a3.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points
- Property
- Arb
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Long Common Name
- t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points [Presence] in Blood or Tissue by Molecular genetics method
- Short Name
- t(9;22)(ABL1,BCR) Major Bld/T Ql
- Display Name
- t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points Molgen Ql (Bld/Tiss)
- Consumer Name Alpha Get Info
- t(9;22)(q34.1;q11)(ABL1,BCR) major break point analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.TRNLOC
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.73
- Change Reason
- Updated Component part to harmonize with ISCN guidelines and current LOINC nomenclature.; Changed Order_Obs from 'Observation Only' to 'Both' to fit current order use cases.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 8094
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-AR | Spanish (Argentina) | puntos de rupturas mayores de translocación del gen T(9,22)(ABL1,BCR): |
es-ES | Spanish (Spain) | t(9; |
es-MX | Spanish (Mexico) | t (9; |
fr-FR | French (France) | t(9; |
it-IT | Italian (Italy) | t(9; Synonyms: Arbitrario Genetica molecolare Patologia molecolare Punti di rottura maggiori di traslocazione t(9,22)(ABL1,BCR) Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | t(9,22)(ABL1,BCR) 유전자 전위 주변 곡점: |
nl-NL | Dutch (Netherlands) | t(9; Synonyms: molgen |
pt-BR | Portuguese (Brazil) | t(9,22)(AcL1,BCR) translocação do gene maior ponto de quebra: Synonyms: ; |
ru-RU | Russian (Russian Federation) | t(9; Synonyms: Кровь Кровь или Ткань Порядковый Произвольный слияния транскрипт мажорная точка разрыва Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | t(9; |
zh-CN | Chinese (China) | t(9; Synonyms: ABL CML JTK7 Mbr p150 T(9,22)(ABL1,BCR) 基因易位主要断裂点 v-abl Abelson murine leukemia viral oncogene homolog 1 v-abl Abelson 小鼠白血病病毒癌基因同源体 1 v-abl Abelson 小鼠白血病病毒肿瘤基因同源体 1 v-abl Abelson 小鼠白血病病毒致癌基因同源体 1 v-abl Abelson 鼠科动物白血病病毒致癌基因同源体 1 v-abl Abelson 鼠科白血病病毒致癌基因同源体 1 主要断点(Major break points, |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://